Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:alsoKnownAs |
gptkb:BRRS
gptkb:Bannayan–Riley–Ruvalcaba_syndrome |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:George_Bannayan
1971 |
| https://www.w3.org/2000/01/rdf-schema#label |
Bannayan syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PTEN_gene
|
| gptkbp:OMIM |
153480
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:PTEN_hamartoma_tumor_syndrome
gptkb:Cowden_syndrome |
| gptkbp:symptom |
developmental delay
macrocephaly hemangiomas intestinal polyposis lipomas pigmented macules on the penis |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Bannayan-Zonana_syndrome
|
| gptkbp:bfsLayer |
7
|